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Table 1 Patients with DMD/BMD harboring missense mutations

From: Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Patient Phetnotype Dystrophin immunostaining Exon DNA change Protein (predicted) Frequency PolyPhen2 prediction
HGVD ESP6500 ExAC
5 BMD faint&patchy 3 c.152 T > G p.Leu51Arg no no no 0.999 probably
19 BMD faint&patchy 6 c.434G > C p.Arg145Pro no no no 0.998 probably
22*2 BMD not done 6 c.481A > C p.Thr161Pro no no no 0.628 possibly
23*2 BMD faint&patchy 6 c.481A > C p.Thr161Pro no no no 0.628 possibly
112 DMD negative 22 c.2949G > T p.Gln9832His no no no 0.991 probably
317 BMD faint&patchy 68 c.9896A > G p.His3299Arg no no no 0.999 probably
320 DMD faint&patchy 68 c.9937 T > C p.Cys3313Arg no no no 0.999 probably
325 DMD negative 69 c.10011C > G p.Cys3337Trp no no no 1 probably
  1. *2 represents brothers